genetics

Question 1

what are 3 ways to first test baby? (3 ways to test baby’s DNA in pregnancy)

Answer 1

1. placental = by chorionic villus sampling (CVS), from 11wks
2. skin/urine cells in amniotic fluid = amniocentesis, from 15wks
3. maternal serum, fetal DNA = non invasive prenatal testing (NIPT)

Question 2

what can NIPT test?

Answer 2

• can look at balance of chromosome (test free fetal DNA in maternal circulation)
  = mostly used for trisomy testing (can also look for Y chromosomes for gender)

Question 3

what is congenital placental mosaicism?

Answer 3

some cells in babies embryo are different to other genetically, this means that can get slightly different cells in placenta than in baby itself (if find result in placenta there is chance that only in placenta, or is baby also affected?)

Question 4

when would you do chromosome microarray testing?

Answer 4

if NIPT positive or high risk chromosomal trisomy screening or fetal abnormality (structural thing on US)

*chromosomal microarray when chop fragments, heat up then cool and they stick to something like themselves, use fluorescence to see extra or missing chromosomes

Question 5

what is a polymorphism?

Answer 5

it’s basically just variation - it can be good//normal or can be bad